MCID: APP015
MIFTS: 49

Apparent Mineralocorticoid Excess malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Metabolic diseases

Aliases & Classifications for Apparent Mineralocorticoid Excess

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 10Disease Ontology, 22GeneTests, 12DISEASES, 36MeSH, 24GTR, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Apparent Mineralocorticoid Excess:

Name: Apparent Mineralocorticoid Excess 49 11 45 51 67 65
Cortisol 11-Beta-Ketoreductase Deficiency 45 22 67 65
Mineralocorticoid Excess Syndrome, Apparent 36 24 65
Apparent Mineralocorticoid Excess Syndrome 10 22 12
Ame 45 22 67
 
Ame1 22 67
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 51
Syndrome of Apparent Mineralocorticoid Excess 10
Ulick Syndrome 51
Ame 1 45

Characteristics:

Orphanet epidemiological data:

51
apparent mineralocorticoid excess:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

61
apparent mineralocorticoid excess:
Onset and clinical course: variable expressivity
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 218030
Disease Ontology10 DOID:4367
MeSH36 D043204
Orphanet51 320
SNOMED-CT59 237770005
ICD10 via Orphanet28 E26.1
MESH via Orphanet37 C537422, D043204
UMLS via Orphanet66 C0342488, C2936861
MedGen34 C2936861
UMLS65 C0342488, C3887949, C2936861

Summaries for Apparent Mineralocorticoid Excess

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OMIM:49 Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low... (218030) more...

MalaCards based summary: Apparent Mineralocorticoid Excess, also known as cortisol 11-beta-ketoreductase deficiency, is related to retinal ischemia and ablepharon-macrostomia syndrome, and has symptoms including metabolic alkalosis, short stature and hypoaldosteronism. An important gene associated with Apparent Mineralocorticoid Excess is HSD11B2 (Hydroxysteroid (11-Beta) Dehydrogenase 2), and among its related pathways are Aldosterone-regulated sodium reabsorption and Prostaglandin Synthesis and Regulation. Affiliated tissues include kidney, lung and liver, and related mouse phenotypes are muscle and adipose tissue.

UniProtKB/Swiss-Prot:67 Apparent mineralocorticoid excess: An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis.

Wikipedia:68 Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high... more...

Related Diseases for Apparent Mineralocorticoid Excess

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Diseases related to Apparent Mineralocorticoid Excess via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1retinal ischemia30.4ATP6V0A4, REN
2ablepharon-macrostomia syndrome11.8
3marden-walker syndrome10.4NR3C2, REN
4breast cancer10.3
5paget disease of bone 410.3NR3C1, NR3C2
6dysplastic nevus syndrome10.3
7hemosiderosis10.3
8acute mountain sickness10.3
9syphilis10.3
10congenital syphilis10.3
11conversion disorder10.2HSD17B6, REN
12iga glomerulonephritis10.2HSD11B2, NR3C2, REN
13familial hyperthyroidism due to mutations in tsh receptor10.2HSD11B2, NR3C2, REN
14acute leukemia10.2PIK3C2A, REN
15lung cancer10.2
16renal cell carcinoma10.2
17myelodysplastic syndrome10.2
18tetralogy of fallot10.2
19rothmund-thomson syndrome10.2
20nonarteritic anterior ischemic optic neuropathy10.2
21digeorge syndrome10.2
22deficiency anemia10.2
23chromophobe renal cell carcinoma10.2
24hepatitis10.2
25ischemic optic neuropathy10.2
26asymptomatic neurosyphilis10.2
27dermatomyositis10.2
28nasopharyngitis10.2
29iron deficiency anemia10.2
30nephrotic syndrome10.2
31esophagitis10.2
32trigeminal neuralgia10.2
33vogt-koyanagi-harada disease10.2
34congenital toxoplasmosis10.2
35neovascular glaucoma10.2
36dysostosis10.2
37orchitis10.2
38corneal dystrophy10.2
39rhabdomyosarcoma10.2
40ischemia10.2
41inclusion body myositis10.2
42retinitis10.2
43myositis10.2
44neuropathy10.2
45progressive myoclonus epilepsy10.2
46epididymo-orchitis10.2
47bronchiectasis10.2
48systolic heart failure10.2
49toxoplasmosis10.2
50eosinophilia10.2

Graphical network of the top 20 diseases related to Apparent Mineralocorticoid Excess:



Diseases related to apparent mineralocorticoid excess

Symptoms for Apparent Mineralocorticoid Excess

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Symptoms by clinical synopsis from OMIM:

218030

Clinical features from OMIM:

218030

HPO human phenotypes related to Apparent Mineralocorticoid Excess:

(show all 10)
id Description Frequency HPO Source Accession
1 metabolic alkalosis HP:0200114
2 short stature HP:0004322
3 hypoaldosteronism HP:0004319
4 decreased circulating renin level HP:0003351
5 decreased circulating aldosterone level HP:0002924
6 hypokalemia HP:0002900
7 small for gestational age HP:0001518
8 failure to thrive HP:0001508
9 hypertensive retinopathy HP:0001095
10 hypertension HP:0000822

Drugs & Therapeutics for Apparent Mineralocorticoid Excess

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Drugs for Apparent Mineralocorticoid Excess (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 39988
2MineralocorticoidsPhase 2, Phase 3301
3Anti-Inflammatory AgentsPhase 2, Phase 38478
4HormonesPhase 2, Phase 311748
5Hormone AntagonistsPhase 2, Phase 310002
6
glycyrrhetinic acidPhase 2, Phase 36471-53-418526330
Synonyms:
18b-Glycyrrhetic acid
18b-Glycyrrhetinic acid
18b-Glycyrrhtinic acid
3-Glycyrrhetinic acid
3-Hydroxy-11-oxoolean-12-en-29-oate
3-Hydroxy-11-oxoolean-12-en-29-oic acid
3-Hydroxy-11-oxoolean-12-en-29-oic acid (ACD/Name 4.0)
3b-Hydroxy-11-oxo-Olean-12-en-30-oate
3b-Hydroxy-11-oxo-Olean-12-en-30-oic acid
3b-Hydroxy-11-oxoolean-12-en-30-oate
 
3b-Hydroxy-11-oxoolean-12-en-30-oic acid
Biosone
Enoxolone
Glycyrrhetic acid
Glycyrrhetin
Glycyrrhetinate
Glycyrrhetinic acid
Uralenic acid
a-Glycyrrhetinic acid
alpha-Glycyrrhetinic acid
b-Glycyrrhetic acid
beta-Glycyrrhetic acid
7LicoriceNutraceuticalPhase 2, Phase 329

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Role of Mineralocorticoid Receptors in Vascular FunctionCompletedNCT00759525Phase 2, Phase 3
2Natural History of Apparent Mineralocorticoid Excess SyndromeCompletedNCT00474942

Search NIH Clinical Center for Apparent Mineralocorticoid Excess


Cochrane evidence based reviews: mineralocorticoid excess syndrome, apparent

Genetic Tests for Apparent Mineralocorticoid Excess

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Genetic tests related to Apparent Mineralocorticoid Excess:

id Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess Syndrome22 HSD11B2

Anatomical Context for Apparent Mineralocorticoid Excess

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MalaCards organs/tissues related to Apparent Mineralocorticoid Excess:

33
Kidney, Lung, Liver, Bone, Brain, Breast, T cells

Animal Models for Apparent Mineralocorticoid Excess or affiliated genes

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MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8HSD11B1, HSD11B2, NR3C1, NR3C2, REN
2MP:00053758.4HSD11B1, NR3C1, PIK3C2A, POMC
3MP:00053867.9ATP6V0A4, HSD11B1, HSD11B2, NR3C1, NR3C2, POMC
4MP:00053857.3HSD11B1, HSD11B2, NR3C1, NR3C2, PIK3C2A, POMC
5MP:00053787.1ATP6V0A4, HSD11B1, NR3C1, NR3C2, PIK3C2A, POMC
6MP:00053676.9ATP6V0A4, CLCNKB, HSD11B2, NR3C1, NR3C2, PIK3C2A
7MP:00053766.4ATP6V0A4, CLCNKB, HSD11B1, HSD11B2, NR3C1, NR3C2

Publications for Apparent Mineralocorticoid Excess

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Articles related to Apparent Mineralocorticoid Excess:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
A case of brain calcifications in postsurgical hypoparathyroidism. (26968176)
2016
2
Progressive osseous heteroplasia: diagnosis, treatment, and prognosis. (25674011)
2015
3
Etiology and clinical characteristics of symptomatic unilateral maxillary sinusitis: A review of 174 cases. (26319958)
2015
4
Epidermal growth factor receptor and KRAS mutations in lung adenocarcinoma: a retrospective study of the Lebanese population. (25120214)
2014
5
KIF13B regulates angiogenesis through Golgi to plasma membrane trafficking of VEGFR2. (25128562)
2014
6
Desquamative gingivitis - A clinical sign in mucous membrane pemphigoid: Report of a case and review of literature. (24741281)
2014
7
Risk factors for pterygium in the high-altitude communities. (25680260)
2014
8
Combined TLR2/4-activated dendritic/tumor cell fusions induce augmented cytotoxic T lymphocytes. (23555011)
2013
9
Cryptococcosis in an immunocompetent pregnant woman. (22766327)
2013
10
Novel molecules for the correction of factor Xa generation and phenotype in hemophilia. (22405049)
2012
11
FBXW7-mediated degradation of CCDC6 is impaired by ATM during DNA damage response in lung cancer cells. (23108047)
2012
12
Recombinant expression, in vitro refolding, and biophysical characterization of the N-terminal domain of T1R3 taste receptor. (22450161)
2012
13
Fibromatosis stem cells rather than bone-marrow mesenchymal stem cells recapitulate a murine model of fibromatosis. (21501590)
2011
14
Letter: Adenocarcinoma of the lung associated with pityriasis rubra pilaris. (22136870)
2011
15
Impact of reciprocal translocation t (18; 21) on male infertility and embryo development: lessons from an oocyte-donating ICSI cycle. (21455767)
2011
16
Phenotypic and genomic analysis of an exceptional case of enteropathy associated T-cell lymphoma. (20226524)
2010
17
Randomized, double-blind, double-dummy, vehicle-controlled study of ingenol mebutate gel 0.025% and 0.05% for actinic keratosis. (19467365)
2009
18
Systemic inflammatory mediators in post-traumatic complex regional pain syndrome (CRPS I) - longitudinal investigations and differences to control groups. (19380284)
2009
19
Common single-nucleotide polymorphisms in DNA double-strand break repair genes and breast cancer risk. (19064565)
2008
20
Bim(L) displacing Bcl-x(L) promotes Bax translocation during TNFalpha-induced apoptosis. (18500555)
2008
21
A comparative study of the role of erythropoietin in the pathogenesis of deficient erythropoiesis in idiopathic pulmonary fibrosis as opposed to chronic obstructive pulmonary disease. (15795697)
2005
22
Genetic and environmental determinants of bone mineral density in Chinese women. (15781005)
2005
23
Redox equilibria in hydroxylamine oxidoreductase. Electrostatic control of electron redistribution in multielectron oxidative processes. (15697211)
2005
24
Differentiation between chronic rejection and chronic cyclosporine toxicity by analysis of renal cortical mRNA. (15496177)
2004
25
Comparison of high-functioning atypical autism and childhood autism by Childhood Autism Rating Scale-Tokyo version. (15009830)
2004
26
Antioxidant activities of grape (Vitis vinifera) pomace extracts. (12358458)
2002
27
Human cerebrospinal fluid apolipoprotein E isoforms are apparently inefficient at complexing with synthetic Alzheimer's amyloid-[beta] peptide (A[beta] 1-40 ) in vitro. (12393935)
2002
28
ET-1 levels in cardioischemic patients undergoing atrial pacing. (11563817)
2001
29
Human toxocariasis and pyogenic liver abscess: a possible association. (11232707)
2001
30
Usefulness of catheter-directed thrombolysis using alteplase in peripheral vascular occlusion. (16369579)
2001
31
A national survey of attitudes towards the use of MRI in patients known to have intracranial aneurysm clips. (11777769)
2001
32
A case of actinic prurigo showing hypersensitivity of skin fibroblasts to ultraviolet A (UVA). (10721864)
2000
33
Biological dynamics of viral load in hemodialysis patients with hepatitis C virus. (10620553)
2000
34
Development of a substrate-activity based approach to identify the major human liver P-450 catalysts of cyclophosphamide and ifosfamide activation based on cDNA-expressed activities and liver microsomal P-450 profiles. (10348794)
1999
35
Differentiating the roles of the hippocampal complex and the neocortex in long-term memory storage: evidence from the study of semantic dementia and Alzheimer's disease. (9055272)
1997
36
Analysis of candidate gene co-amplification with MYCN in neuroblastoma. (9516849)
1997
37
Acute myelomonocytic leukemia secondary to synchronous carcinomas of the breast and lung, and to metachronous renal cell carcinoma. (9620229)
1997
38
Exogenous testosterone alters expression pattern of cell recognition molecules in brains of juvenile zebra finches. (7539301)
1995
39
Allergen exposure induces the activation of allergen-specific Th2 cells in the airway mucosa of patients with allergic respiratory disorders. (8100770)
1993
40
X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system? (8513884)
1993
41
Neutralizing antibodies against calcitonin. (8225203)
1993
42
Patterns of release of oxytocin, prolactin, insulin and LH in lactating sows, studied using continuous blood collection technique. (8237174)
1993
43
Somatostatin competes with the central portion of gastrin releasing peptide for binding to a 120 kDa protein. (20504692)
1991
44
Comparative thrombolytic properties of bolus injections and continuous infusions of a chimeric (t-PA/u-PA) plasminogen activator in a hamster pulmonary embolism model. (1906351)
1991
45
Contrary effect of lactic acid on expression of neuron-specific enolase and glial fibrillary acidic protein in human glioma cells. (2327250)
1990
46
Expression of human alpha-globin and mouse/human hybrid beta-globin genes in murine hemopoietic stem cells transduced by recombinant retroviruses. (2349242)
1990
47
Discrimination of human placental alkaline phosphatase allelic variants by monoclonal antibodies. (6186142)
1983
48
Uterine sarcoma in Jamaican women. A 15-year clinicopathological study. (7218212)
1981
49
Serous tumors of the ovary. I. Ultrastructural and histochemical studies of the epithelium of the benign serous neoplasms, serous cystadenoma and serous cystadenofibroma. (143398)
1977
50
The radiological contribution toward the diagnosis of chronic pyelonephritis. (6025043)
1967

Variations for Apparent Mineralocorticoid Excess

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UniProtKB/Swiss-Prot genetic disease variations for Apparent Mineralocorticoid Excess:

67 (show all 14)
id Symbol AA change Variation ID SNP ID
1HSD11B2p.Arg208CysVAR_006958
2HSD11B2p.Arg213CysVAR_006959
3HSD11B2p.Leu179ArgVAR_015635
4HSD11B2p.Ser180PheVAR_015636
5HSD11B2p.Arg186CysVAR_015637
6HSD11B2p.Arg208HisVAR_015638
7HSD11B2p.Ala237ValVAR_015640
8HSD11B2p.Asp244AsnVAR_015641
9HSD11B2p.Leu250ArgVAR_015642
10HSD11B2p.Arg279CysVAR_015644
11HSD11B2p.Ala328ValVAR_015645
12HSD11B2p.Tyr338HisVAR_015646
13HSD11B2p.Asp223AsnVAR_066514
14HSD11B2p.Arg337CysVAR_066515

Clinvar genetic disease variations for Apparent Mineralocorticoid Excess:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1HSD11B2NM_000196.3(HSD11B2): c.622C> T (p.Arg208Cys)single nucleotide variantPathogenicrs121917780GRCh37Chr 16, 67470003: 67470003
2HSD11B2NM_000196.3(HSD11B2): c.637C> T (p.Arg213Cys)single nucleotide variantPathogenicrs28934591GRCh37Chr 16, 67470018: 67470018
3HSD11B2NM_000196.3(HSD11B2): c.1009C> T (p.Arg337Cys)single nucleotide variantPathogenicrs121917781GRCh37Chr 16, 67470697: 67470697
4HSD11B2NM_000196.3(HSD11B2): c.623G> A (p.Arg208His)single nucleotide variantPathogenicrs28934592GRCh37Chr 16, 67470004: 67470004
5HSD11B2NM_000196.3(HSD11B2): c.1010_1012delGCT (p.Arg337_Tyr338delinsHis)deletionPathogenicrs397509434GRCh37Chr 16, 67470698: 67470700
6HSD11B2NM_000196.3(HSD11B2): c.835C> T (p.Arg279Cys)single nucleotide variantPathogenicrs28934594GRCh37Chr 16, 67470523: 67470523
7HSD11B2NM_000196.3(HSD11B2): c.667G> A (p.Asp223Asn)single nucleotide variantPathogenicrs121917833GRCh37Chr 16, 67470154: 67470154
8HSD11B2NM_000196.3(HSD11B2): c.895_897delTAC (p.Tyr299del)deletionPathogenicrs794726670GRCh37Chr 16, 67470583: 67470585
9HSD11B2NM_000196.3(HSD11B2): c.664+14C> Tsingle nucleotide variantPathogenicrs376023420GRCh37Chr 16, 67470059: 67470059
10HSD11B2NM_000196.3(HSD11B2): c.1012T> C (p.Tyr338His)single nucleotide variantPathogenicrs387907117GRCh37Chr 16, 67470700: 67470700
11HSD11B2NM_000196.3(HSD11B2): c.77_78delCA (p.Ser26Terfs)deletionPathogenicrs794726684GRCh37Chr 16, 67465228: 67465229

Expression for genes affiliated with Apparent Mineralocorticoid Excess

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Search GEO for disease gene expression data for Apparent Mineralocorticoid Excess.

Pathways for genes affiliated with Apparent Mineralocorticoid Excess

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GO Terms for genes affiliated with Apparent Mineralocorticoid Excess

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Biological processes related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1steroid metabolic processGO:00082029.8HSD11B1, HSD11B2

Sources for Apparent Mineralocorticoid Excess

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet